A novel mutation identified in PKHD1 by targeted exome sequencing: Guiding prenatal diagnosis for an ARPKD family

Gene

Volumn 551, Issue 1, 2014, Pages 33-38

  Xu, Yan ^a,b   Xiao, Bing ^a,b   Jiang, Wen Ting ^a,b   Wang, Lei ^a   Gen, Hong Quan ^a   Chen, Ying Wei ^a,b   Sun, Yu ^a,b   Ji, Xing ^a,b  

^a XINHUA HOSPITAL AFFILIATED TO SHANGHAI JIAO TONG UNIVERSITY SCHOOL OF MEDICINE   (China)

^b Shanghai Institute of Pediatric Research   (China)

Author keywords

ARPKD; Compound heterozygous mutation; PKHD1; Prenatal diagnosis; Targeted exome sequencing

Indexed keywords

FIBROCYSTIN; CELL SURFACE RECEPTOR; PKHD1 PROTEIN, HUMAN;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; EXOME; FETUS; GENE MUTATION; HUMAN; KIDNEY POLYCYSTIC DISEASE; LINKAGE ANALYSIS; MISSENSE MUTATION; PREGNANCY; PRENATAL DIAGNOSIS; ULTRASOUND; DNA SEQUENCE; ECHOGRAPHY; FEMALE; FETAL DISEASES; GENETIC LINKAGE; GENETIC SCREENING; GENETICS; HETEROZYGOTE; MALE; MUTATION; POLYCYSTIC KIDNEY, AUTOSOMAL RECESSIVE; PRESCHOOL CHILD; PROCEDURES;

CHILD, PRESCHOOL; EXOME; FEMALE; FETAL DISEASES; GENETIC LINKAGE; GENETIC TESTING; HETEROZYGOTE; HUMANS; MALE; MUTATION; POLYCYSTIC KIDNEY, AUTOSOMAL RECESSIVE; PREGNANCY; PRENATAL DIAGNOSIS; RECEPTORS, CELL SURFACE; SEQUENCE ANALYSIS, DNA;

EID: 84907518289     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2014.08.032     Document Type: Article

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